Patau Syndrome (Trisomy 13)

Original Editor - Reem Ramadan Top Contributors - Reem Ramadan

Introduction[edit | edit source]

Trisomy 13, also known as Patau Syndrome, is a genetic disorder that occurs when an individual has 3 copies of chromosome 13 in their cells which leads to developmental and health abnormalities[1]. It is one of the most common trisomies occurring in 1 per 5,000 births following Trisomy 21, also known as Down Syndrome, and Trisomy 18, also known as Edward's Syndrome[2].

References[edit | edit source]

  1. Hall HE, Chan ER, Collins A, Judis L, Shirley S, Surti U, Hoffner L, Cockwell AE, Jacobs PA, Hassold TJ. The origin of trisomy 13. American Journal of Medical Genetics Part A. 2007 Oct 1;143(19):2242-8.
  2. Springett A, Wellesley D, Greenlees R, Loane M, Addor MC, Arriola L, Bergman J, Cavero‐Carbonell C, Csaky‐Szunyogh M, Draper ES, Garne E. Congenital anomalies associated with trisomy 18 or trisomy 13: A registry‐based study in 16 European countries, 2000–2011. American journal of medical genetics Part A. 2015 Dec;167(12):3062-9.